7p22.1 microduplication syndrome
Synonyms: Dup(7)(p22.1) · Trisomy 7p22.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 7p22.1 microduplication syndrome | Dup(7)(p22.1) · Trisomy 7p22.1 |
| fr | Syndrome de microduplication 7p22.1 | Dup(7)(p22.1) · Trisomie 7p22.1 |
| de | Mikroduplikationssyndrom 7p22.1 | Dup(7)(p22.1) · Trisomie 7p22.1 |
| es | Síndrome de microduplicación 7p22.1 | Dup(7)(p22.1) · Trisomía 7p22.1 |
| it | Sindrome da microduplicazione 7p22.1 | Dup(7)(p22.1) · Trisomia 7p22.1 |
| nl | 7p22.1-microduplicatiesyndroom | Dup(7)(p22.1) · Trisomie 7p22.1 |
| pt | Síndrome da microduplicação 7p22.1 | Dup(7)(p22.1) · Trissomia 7p22.1 |
| pl | Zespół mikroduplikacji 7p22.1 | Dup(7)(p22.1) · Trisomia 7p22.1 |
| cs | Mikroduplikační syndrom 7p22.1 | Dup(7)(p22.1) · Trizomie 7p22.1 |
| uk | Синдром мікродуплікації 7p22.1 | Dup(7)(p22.1) · Трисомія 7p22.1 |
| zh | 7p22.1微重复综合征 | 7p22.1三体 |
| tr | 7p22.1 mikroduplikasyon sendromu | Dup(7)(p22.1) · Trizomi 7p22.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0017792 | E | validated | |
| UMLS | C4707093 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262749Partial duplication of the short arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26297194[PMID] |
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26297194[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0000256 | Macrocephaly | |
| HP:0001270 | Motor delay | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 25893121[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314034
- This record as JSON: /data/d/314034.json